Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.

Background: Heterozygous gene mutations in fumarate hydratase can result in a syndrome characterized by hereditary (cutaneous and uterine) leiomyomatosis and renal cell cancer. This disorder has been described in more than 200 families, but the prevalence of the disease is unknown.

Case: A 22 year-old woman of Bangladeshi lineage presented with menorrhagia and pelvic pain secondary to uterine leiomyomas and underwent an abdominal myomectomy.

PAX7 expression defines germline stem cells in the adult testis.

Spermatogenesis is a complex, multistep process that maintains male fertility and is sustained by rare germline stem cells. Spermatogenic progression begins with spermatogonia, populations of which express distinct markers. The identity of the spermatogonial stem cell population in the undisturbed testis is controversial due to a lack of reliable and specific markers.

Gonadal expression of Foxo1, but not Foxo3, is conserved in diverse Mammalian species.

The Foxos are key effectors of the PI3K/Akt signaling pathway and regulate diverse physiologic processes. Two of these factors, Foxo1 and Foxo3, serve specific roles in reproduction in the mouse. Foxo3 is required for suppression of primordial follicle activation in females, while Foxo1 regulates spermatogonial stem cell maintenance in males.